Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5309318012 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309319016 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309320010 | Primary hypomagnesaemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309321014 | FHHNC - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309322019 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309323012 | FHHNC - familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309324018 | Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309325017 | Michellis Castrillo syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 15097861000146112 | familiaire primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15097871000146118 | familiaire primaire hypomagnesiëmie met hypercalciurie en nefrocalcinose (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15097881000146116 | FHHNC | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15097891000146119 | syndroom van Michellis-Castrillo | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15097901000146118 | familiale primaire hypomagnesiëmie met hypercalciurie en nephrocalcinosis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5309326016 | A form of familial primary hypomagnesemia (FPH) characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309327013 | A form of familial primary hypomagnesaemia (FPH) characterised by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes are described: with severe ocular involvement and without severe ocular involvement. The median age of onset ranges from 1 to 8 years. The disease is caused by mutations in the genes CLDN16 (3q28) and CLDN19 (1p34.2), encoding claudin-16 and claudin-19 respectively. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Is a | Familial hypomagnesemia-hypercalciuria | true | Inferred relationship | Some | ||
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Is a | Nephrocalcinosis | true | Inferred relationship | Some | ||
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Finding site | Structure of parenchyma of kidney | true | Inferred relationship | Some | 1 | |
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Associated morphology | Pathologic calcification | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) | Is a | True | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Inferred relationship | Some | |
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) | Is a | True | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR